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Article

An international retrospective early natural history study of LAMA2-related dystrophies.

Journal of neuromuscular diseases - 1 Nov 2024

Hinkley Lauren, Orbach Rotem, Park Justin, Alvarez Rachel, Dziewczapolski Gustavo, Bönnemann Carsten G, Foley A Reghan

Abstract excerpt

BACKGROUND: LAMA2-related dystrophies (LAMA2-RDs) represent one of the most common forms of congenital muscular dystrophy and have historically been classified into two subtypes: complete or partial deficiency of laminin-211 (merosin). Patients with LAMA2-RD with the typical congenital phenotype manifest severe muscle weakness, delayed motor milestones, joint contractures, failure to thrive, and progressive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39177609
DOI: 10.3233/JND-240048
PMCID: PMC13108009

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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